Incidental Mutation 'IGL02265:Serpini1'
| ID |
286872 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpini1
|
| Ensembl Gene |
ENSMUSG00000027834 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade I, member 1 |
| Synonyms |
PI12, Spi17, Neuroserpin, Ns |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL02265
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75526576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 276
(I276T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029423]
[ENSMUST00000161776]
|
| AlphaFold |
O35684 |
| PDB Structure |
Crystal Structure of Mouse Neuroserpin (Cleaved form) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029423
AA Change: I276T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029423
Gene: ENSMUSG00000027834
AA Change: I276T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
SERPIN
|
31 |
397 |
1.46e-158 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161776
|
| SMART Domains |
Protein: ENSMUSP00000123845
Gene: ENSMUSG00000027834
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
SERPIN
|
31 |
207 |
1.15e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192682
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene show no change in brain morphology or histology. However, they show an increase avoidance of novel stimuli and increased anxiety responses in some situations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Eef1d |
G |
T |
15: 75,775,283 (GRCm39) |
D125E |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,095,689 (GRCm39) |
I19V |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,600,101 (GRCm39) |
S165R |
probably benign |
Het |
| Fry |
A |
G |
5: 150,360,618 (GRCm39) |
E75G |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,455,107 (GRCm39) |
Q139R |
probably benign |
Het |
| Mapk13 |
T |
C |
17: 28,996,692 (GRCm39) |
|
probably benign |
Het |
| N4bp3 |
G |
T |
11: 51,534,645 (GRCm39) |
Q473K |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,672,871 (GRCm39) |
N336S |
probably damaging |
Het |
| Or10ag58 |
G |
A |
2: 87,265,688 (GRCm39) |
V286I |
probably benign |
Het |
| P4ha3 |
T |
G |
7: 99,943,139 (GRCm39) |
F175V |
probably benign |
Het |
| Psmd13 |
C |
T |
7: 140,462,431 (GRCm39) |
P16L |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,573,826 (GRCm39) |
N82D |
possibly damaging |
Het |
| Rtkn |
G |
A |
6: 83,124,523 (GRCm39) |
C122Y |
probably damaging |
Het |
| Vmn2r73 |
A |
C |
7: 85,520,847 (GRCm39) |
F374V |
probably benign |
Het |
| Wasf1 |
A |
G |
10: 40,812,437 (GRCm39) |
T409A |
unknown |
Het |
| Xirp2 |
A |
T |
2: 67,347,494 (GRCm39) |
Q3245L |
possibly damaging |
Het |
|
| Other mutations in Serpini1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Serpini1
|
APN |
3 |
75,548,002 (GRCm39) |
nonsense |
probably null |
|
|
IGL02131:Serpini1
|
APN |
3 |
75,548,011 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03151:Serpini1
|
APN |
3 |
75,520,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03232:Serpini1
|
APN |
3 |
75,545,317 (GRCm39) |
splice site |
probably benign |
|
|
IGL03256:Serpini1
|
APN |
3 |
75,526,481 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0021:Serpini1
|
UTSW |
3 |
75,526,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Serpini1
|
UTSW |
3 |
75,526,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Serpini1
|
UTSW |
3 |
75,520,648 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0941:Serpini1
|
UTSW |
3 |
75,523,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1641:Serpini1
|
UTSW |
3 |
75,521,977 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1968:Serpini1
|
UTSW |
3 |
75,521,785 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1993:Serpini1
|
UTSW |
3 |
75,521,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Serpini1
|
UTSW |
3 |
75,531,251 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3418:Serpini1
|
UTSW |
3 |
75,547,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Serpini1
|
UTSW |
3 |
75,547,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Serpini1
|
UTSW |
3 |
75,521,942 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4618:Serpini1
|
UTSW |
3 |
75,523,883 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4864:Serpini1
|
UTSW |
3 |
75,520,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4989:Serpini1
|
UTSW |
3 |
75,521,795 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5080:Serpini1
|
UTSW |
3 |
75,523,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5324:Serpini1
|
UTSW |
3 |
75,547,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Serpini1
|
UTSW |
3 |
75,520,388 (GRCm39) |
splice site |
probably benign |
|
|
R5817:Serpini1
|
UTSW |
3 |
75,520,631 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5912:Serpini1
|
UTSW |
3 |
75,523,914 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5944:Serpini1
|
UTSW |
3 |
75,547,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Serpini1
|
UTSW |
3 |
75,545,255 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7716:Serpini1
|
UTSW |
3 |
75,524,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Serpini1
|
UTSW |
3 |
75,520,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation